Nehru Science Centre, Mumbai, is going to celebrate Rare Disease Day with the afflicted patients suffering from Lysosomal Storage Disorders (LSDs) and geneticists from across the country comprising more than 100 patients/ parents, on February 29 in Mumbai.
LSDs fall under the category of rare diseases, the incidence of treatable LSDs ranges from 1 in 30,000 to 1 in 400,000 births. In India, around 500 babies are likely to be affected every year by treatable LSDs. Few LSD patients are lucky enough to receive external aid.
The concerted efforts of the recently formed LSD patients’ society (Lysosomal Storage Disorders Support Society) and their caregivers, awareness on LSDs is growing. This awareness on these diseases in the country is quite low, observing Rare Disease Day each year is a step to educate the general masses.
Speaking about the occasion, Dr Seema Thakur, senior consultant in Department of Clinical Genetics and Fetal medicine, Fortis Healthcare Management, New Delhi, said, “Rare Disease Day is being observed for third time in India. Such events awareness level has increased and that is helping sufferers in getting correct diagnosis and treatment on time. The Government’s support is essential for treatment of such diseases, which could be done by setting up facilities for screening, early and accurate diagnosis, appropriate enzyme therapy, and rehabilitation to make patients’ lives more comfortable.”
Based upon the ‘Solidarity’ theme, the event has been planned to promote the idea of dealing with the rarity of such diseases by ensuring the togetherness of patients and caregivers of children suffering from rare diseases of all categories.
A disease is termed rare if it affects less than one person in 5,000. Diseases such as Gaucher, Pompe, Fabry, MPS, and suchlike belong to a category of rare diseases called Lysosomal Storage Disorders (LSDs). Because of the rare nature of these conditions, awareness of such diseases in the community is extremely low and few medical professionals specialize in them, making it more difficult for patients seeking medical aid.
LSDs are a group of approximately 45 rare inherited metabolic disorders that result from defects in lysosomal function. It results when a specific organelle in the body’s cells – the lysosome – malfunctions. It affects mostly children, who often die at a young, unpredictable age, many within a few months or years of birth. Its symptoms include developmental delay, movement disorders, seizures, dementia, deafness and/or blindness. Some patients with LSD have enlarged liver (hepatomegaly) and enlarged spleen (splenomegaly), pulmonary and cardiac problems, and bones that grow abnormally.
The LSD Support Society (LSDSS) is a group comprising people – patients, families and caregivers – who know what it’s like to live with LSDs. It aims to create a strong voice for LSD patients in India by forming a strong national support group.